Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease

American Journal of Medical Genetics

Volumn 99, Issue 2, 2001, Pages 147-151

  Park, J K ^a   Koprivica, V ^a   Andrews, D Q ^a   Madike, V ^a   Tayebi, N ^a   Stone, D L ^a   Sidransky, E ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

Author keywords

African American; Gaucher disease; Genotype phenotype correlation; Glucocerebrosidase; Metaxin; Pseudogene; Recombinant allele

Indexed keywords

GLUCOSYLCERAMIDASE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; ENZYME DEFECT; ETHNIC DIFFERENCE; FEMALE; GAUCHER DISEASE; GENE DUPLICATION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC RECOMBINATION; GENOTYPE; HUMAN; MALE; ONSET AGE; POINT MUTATION; PRIORITY JOURNAL; SOUTHERN BLOTTING; SYMPTOMATOLOGY; UNITED STATES;

ADOLESCENT; ADULT; AFRICAN AMERICANS; AFRICAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; FEMALE; GAUCHER DISEASE; GENETIC HETEROGENEITY; GENOTYPE; GLUCOSYLCERAMIDASE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 0035282202     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1144>3.0.CO;2-1     Document Type: Article

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